全面性癫痫伴热性惊厥附加症10例患者的临床特点及SCN1A基因突变筛查

Screening of SCN1A gene mutations in 10 cases of generalized epilepsy with febrile seizures

目的分析全面性癫痫伴热性惊厥附加症(GEFS+)临床表型特征并筛查SCN1A基因突变情况。方法选取2015-11~2018-11佳木斯市中心医院癫痫科收治的10例GEFS+患者临床资料,分析临床表型特点,采集外周静脉血样,检测基因。结果10例GEFS+患者中临床表型包括6例热性惊厥,2例热性惊厥附加症,2例婴儿严重肌阵挛性癫痫(DS)。2例SCN1A基因突变,SCN1A基因突变检出率为20%,其中1例受检者SCN1A基因发现c.2491C>T(编码区第2491号核苷酸由C变为T)的杂合核苷酸突变,该突变为错义突变,另一例受检者SCN1A基因hB-409nt、hB-265nt、第1-26号外显子杂合缺失变异;结合病史及家系综合分析2例患儿均确诊为DS。结论GEFS+最常见的临床表型是热性惊厥以及热性惊厥附加症,需结合病史、临床表现、家系、基因检测等情况确诊及治疗。GEFS+与SCN1A基因突变情况存在一定相关性,可以由错义突变和缺失突变引起。

Objective To analyze the clinical phenotypic characteristics of generalized epilepsy with febrile seizures(GEFS+)and screen the SCN1A gene mutations.Methods From November 2015 to November 2018,10 patients with GEFS+from the Department of Epilepsy,Jiamusi Central Hospital were selected to analyze the clinical phenotypic characteristics of GEFS+.Peripheral venous blood samples were collected to detect the genes.Results Of 10 patients with GEFS+,there were 6 cases of febrile seizures plus,2 cases of febrile seizures plus,and 2 cases of Dravet syndrome.Two SCN1A gene mutations were found in 10 patients with GEFS+.The detection rate of SCN1A gene mutation was 20%.One of them was missense mutation(c.2491C>T)and the other was deletion mutation.After comprehensive analysis,2 cases of gene mutation were diagnosed as Dravet syndrome.Conclusion The most common clinical phenotype of GEFS+is febrile seizures and febrile seizures plus.GEFS+needs to be diagnosed and treated in combination with medical history,clinical manifestations,pedigree and gene detection.GEFS+is correlated with SCN1A gene mutation,and it can be caused by missense mutation and deletion mutation.